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Dataset ID

NHA000208

Type of data
GWAS for Moyamoya disease
Access criteria
Unrestricted-access
Total data volume
202 MB
File formats
  • DOCX
  • ZIP
Research
hum0197
Date published
2026-03-10
Date modified
2026-03-10
Secondary ID
hum0197.v30.MMD-gwas.v1

Unrestricted-access files linked to this dataset

Download the URL list
FileLabelSizeCopy URL
Description_GWASsummary_MMD.docxDictionary file19.3 KB
hum0197.v30.MMD-gwas.v1.zip202 MB

Analysis method

genome wide SNPs

Materials and participants
Moyamoya disease (ICD10: I67.5): 401 cases
control participants: 47,255
  • Health status
    Mixed
  • Subject count
    47,656 (Individual)
Disease
Moyamoya disease (I675)
Sample description
DNAs extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Genotyping by array
Target
N/A
Reagent kit
Infinium Asian Screening Array Kit
Platform
Illumina Infinium Asian Screening Array
QC and filtering
Sample QC: We excluded individuals with low genotyping call rates (call rate < 98%). We included individuals of the estimated Japanese ancestry using PCA
Variant QC: We excluded variants with (1) genotyping call rate < 99%, (2) minor allele count < 5, (3) P-value for Hardy-Weinberg equilibrium < 1.0 × 10−10, and (4) > 5% allele frequency difference compared with the imputation reference panel or the allele frequency panel of Tohoku Medical Megabank Project.
Post-imputation QC: We excluded imputed variants with Rsq < 0.7 and minor allele frequency < 0.5%
Imputation
Haplotype phasing: shapeit4
Imputation: minimac4
Analysis method
Genotyping: GenomeStudio
SAIGE
Variant count
9,071,729 variants (reference: in-house Japanese-specific reference panel composed of n = 4,561 whole-genome sequence WGS data)
Processed data type
GWAS summary statistics
Data use policy
NBDC data sharing policy (JGAP000001)